Latest news with #PKU
ABC News
a day ago
- Health
- ABC News
SA researchers expand baby heel-prick screening to help find rare conditions
When Max was three days old, he was diagnosed with a rare and life-changing condition called phenylketonuria, commonly known as PKU, through a newborn blood screening test. The condition is one of more than 30 which can currently be detected in newborns through heel-prick blood samples to help identify and treat serious health conditions early. Now, researchers in South Australia are working to expand the screening program to detect more than 600 genetic conditions. PKU is an inherited blood disorder which can affect how the body processes protein and can eventually lead to serious health problems if left untreated. "[It's] actually the condition that started the whole newborn screening program in the 1960s," explained South Australian researcher Professor Karin Kassahn. "It's one of the metabolic conditions where the body can't process protein, phenylalanine in particular [which is] a certain amino acid, in the way it usually would … so by picking this up at birth, then the diet can be modified." The heel-prick test method was developed by American microbiologist, Dr Robert Guthrie, whose niece was diagnosed with PKU at 13 months — too late to prevent early brain damage. Since 1960, the program has been rolled out across much of the world as a routine test for newborns — and expanded to be able to accurately and quickly detect more than 30 conditions. Twins, Max and Blake, underwent the screening as newborns. Their parents, Hannah and Robert Macbeth, had no idea PKU existed when Max was first diagnosed. "We'd never heard of it," Ms Macbeth said. "We kind of cried about it until it kind of realistically hit us and we went, 'You know what, we can manage this. We've caught it early'." Mr Macbeth said he was worried his son would have to follow a restricted diet for life. "We're quite a barbecuing family so we love our meats and that sort of thing and entertaining," he said. Thanks to early detection and intervention, Max's protein levels are closely monitored with weekly at-home prick tests, and he uses a medication to help lower his blood phenylalanine levels. "We're very lucky," Ms Macbeth said. "We could have been in all sorts of dramas for him because it can be pretty serious if left undiagnosed." Untreated, PKU can lead to irreversible brain damage and intellectual disability, neurological conditions such as seizures and tremors, and problems with behaviour, emotions, development and health. But for now, things are looking positive. "He'll live a relatively normal life, he might just be a bit different with food at school and stuff," Ms Macbeth said. "It's just managing it and it's quite easy at the moment … he's a happy little soul," Mr Macbeth added. The couple said they thought expanding the testing program would be "brilliant". "If we can do testing that picks up these things when they're little and there are things we can put in place to help reduce [the risk of] something happening in the long run or causing a bigger issue, then we would be mad not to do it," Ms Macbeth said. Professor Kassahn is the principal investigator on the NewbornsInSA study which is combining genomics and metabolomics in a bid to detect more treatable conditions, earlier. "Many of the conditions we screen for are rare, so individually people will probably not have heard of many of them — cystic fibrosis and PKU are probably the more familiar ones, but collectively they actually constitute quite a significant health burden," she said. "They are the primary cause of childhood admissions to hospital and also ongoing health problems. "Early detection allows early intervention and treatment, and just as the current program has really saved thousands of lives, we're hoping by expanding on that program … we can make a difference to the health outcomes for these babies." The researchers are looking for conditions including immune deficiencies, conditions of metabolic dysregulation, congenital deafness, and neurological conditions. Professor Kassahn said the study collaboration between SA Pathology, the Women's and Children's Hospital and the University of Adelaide was "well underway" with 250 families already enrolled, out of their target of 1,000. The team has already made some significant findings — with early intervention now in place for those families to help treat or manage their rare diagnoses. "We've issued five of what we call a 'high chance report' and those would have otherwise been undetected," she explained. "Those families are being managed through the clinical teams at the Women's and Children's Hospital." She said eligible families are still able to take part in the study with enrolment via the NewbornsInSA website.
Yahoo
17-05-2025
- Health
- Yahoo
Tessera Therapeutics Features New Preclinical Data Demonstrating Progress Across its In Vivo Gene Writing™ Programs and Delivery Platform at the American Society of Gene and Cell Therapy 28th Annual Meeting
Presented new preclinical data in non-human primates (NHP) for alpha-1 antitrypsin deficiency (AATD) and phenylketonuria (PKU), where RNA Gene Writer achieved an estimated 76% and 70% editing in hepatocytes1, respectively New AATD data reinforced the safety and precision of Tessera's proprietary LNP delivery system, demonstrating that it was well tolerated in NHP with high liver specificity and no off-target activity detected Preclinical data for sickle cell disease (SCD) across mouse and NHP models highlight Tessera's RNA Gene Writers' ability to drive durable and efficient gene editing greater than 20% in long-term hematopoietic stem cells (LT-HSCs), reaching a potentially curative threshold SOMERVILLE, Mass., May 17, 2025 (GLOBE NEWSWIRE) -- Tessera Therapeutics, the biotechnology company pioneering a new approach in genetic medicine known as Gene Writing™, is presenting updates across its in vivo genetic medicine programs for AATD, PKU, and SCD, as well as advances in in vivo T cell therapies. These data were shared across four oral presentations and three poster presentations at the American Society of Gene and Cell Therapy (ASGCT) Annual Meeting taking place in New Orleans, Louisiana, May 13 – 17, 2025. 'The ability to achieve durable, highly efficient gene editing in vivo – including in the liver, hematopoietic stem cells, and T cells – positions Tessera to address multiple disease areas,' said Michael Severino, M.D., CEO of Tessera Therapeutics. 'As we move closer to the clinic, these results underscore the potential of our Gene Writing and delivery platforms to advance a new class of genetic medicines that could one day transform the treatment of AATD, PKU, and SCD, and oncologic and autoimmune diseases.' AATD Data AATD is a monogenic disease of the liver caused by mutations in the SERPINA1 gene, resulting in an abnormal form of the alpha-1 antitrypsin (AAT) protein that causes both lung and liver manifestations. Preclinical data in NHPs following a single dose of 1.5 mg/kg of RNA Gene Writer formulated with a proprietary LNP delivery vehicle, continued to show robust levels of genome editing, achieving an estimated 76% in hepatocytes1 at the SERPINA1 locus. High fidelity was observed with a 195 to 1 ratio of intended to unintended edits at the target locus. As part of Tessera's evaluation of the genomic safety profile of its RNA Gene Writer, NHP data displayed high specificity of editing to the liver with only spleen showing quantifiable levels of editing above background (0.14%) among 30 additional tissues tested. Importantly, editing was not detected in germline tissues, including testes and ovaries. Editing was also highly specific to the intended SERPINA1 locus, with no off-target activity detected at other genetic loci. In addition, a study in NHPs where 80% editing of hepatocytes was achieved by an RNA Gene Writer targeting SERPINA1 demonstrated this editing was durable for at least six months, as supported by genomic DNA analysis of whole liver samples and cDNA analysis of edited mRNA transcripts. Data were also presented from an RNA Gene Writer that achieved therapeutically relevant levels of correction at very low doses in the PiZ mouse model, including 70% genomic correction in hepatocytes at 0.05 mg/kg, and 95% at 0.5 mg/kg that corresponded to 92% and 100% correction of serum AAT protein to wild-type. Durable mutation correction and phenotypic rescue was observed including a 75% reduction of AAT aggregates by liver histology that resulted in less than 5% of liver area being occupied by toxic aggregates in the 0.5 mg/kg treated group at 10 weeks post-treatment. Further data featured on Tessera's proprietary LNP delivery vehicle demonstrated that it was well tolerated in NHPs, with no clinically meaningful elevation in liver enzyme levels and no signs of coagulopathy at doses of 1 and 2 mg/kg. PKU Data PKU is a monogenic disease of the liver caused by mutations in the phenylalanine hydroxylase (PAH) gene, which leads to the inability to metabolize the dietary amino acid phenylalanine (Phe), resulting in toxic Phe accumulation and neurocognitive impairment. Preclinical data in NHPs was presented from a single dose of RNA Gene Writer formulated with a proprietary LNP delivery vehicle, where an estimated 70% editing of the PAH locus was achieved in hepatocytes1 at 2 mg/kg, with supporting cDNA analysis demonstrating 67% of PAH mRNA was edited. Data was also presented from an RNA Gene Writer that achieved an estimated 65% correction in hepatocytes at 0.2 mg/kg in the humanized R408W mouse model, normalizing plasma Phe levels in a mouse disease model. SCD Data SCD is the most common lethal monogenic disease globally, arising from a mutation in the hemoglobin beta-globin (HBB) gene that results in hemoglobin S, which can cause red blood cell sickling, acute and chronic pain, and widespread organ damage. Multiple proof-of-concept studies of Gene Writer formulated in a proprietary LNP delivery vehicle were presented, achieving greater than 20% HBB editing in LT-HSCs with repeat dose in two NHP species, including cynomolgus and rhesus, reaching potentially curative levels. Single cell analysis of HSCs collected from treated NHP showed ~35-50% of cells had at least one edited HBB gene. Edited cells demonstrated durability across multiple loci in NHP, out to 6 months with beta-2 microglobulin (B2M) surrogate editing and out to 4 months with HBB editing, with edited cells supporting long-term self-renewal and multi-lineage development. In a humanized mouse model engrafted with mobilized peripheral blood cells from individuals with SCD, RNA Gene Writer achieved approximately 35% in vivo correction of the HBB gene in LT-HSCs. Additional data in a humanized wild-type mouse model showed that RNA Gene Writer achieved greater than 50% HBB editing in LT-HSCs across multiple donors. These results across mouse and NHP models highlight Tessera's Gene Writing and delivery platforms' ability to drive efficient gene correction in clinically relevant cell populations, representing a significant advancement towards a potentially curative, durable and non-viral approach for treating SCD that will neither require stem cell mobilization/transplantation nor myeloablative pre-conditioning. Human mixed donor chimerism studies demonstrate that 20% chimerism can reverse the sickle phenotype in patients following allogeneic hematopoietic stem cell transplant.2 Advances Towards T-Cell Therapies Tessera is applying its Gene Writing and proprietary LNP delivery platforms to develop in vivo cell therapies for potential oncology and autoimmune disease applications. Proof-of-concept mouse studies demonstrated that a single intravenous infusion of RNA Gene Writer, delivered in a proprietary LNP, successfully generated functional CAR-T cells in vivo targeting CD19 and CD20. In a tumor-bearing xenograft model, this approach led to CD19 CAR-T cell expansion and complete tumor clearance. In a naïve humanized mouse model, an average of 30% CD20-targeted CAR writing was achieved in resting T cells, resulting in the elimination of circulating human B cells. ___________________1 Based on the assumption that 60% of liver cells are comprised of hepatocytes2 Blood. 2017;130(17):1946-1948 About Tessera Therapeutics Tessera Therapeutics is pioneering a new approach to genome engineering through the development of its Gene Writing™ and delivery platforms, with the aim to unlock broad new therapeutic frontiers. Our Gene Writing platform is designed to write therapeutic messages into the genome by efficiently changing single or multiple DNA base pairs, precisely correcting insertions and deletions, or adding exon-length sequences and whole genes. Our proprietary lipid nanoparticle delivery platform is designed to enable the in vivo delivery of RNA to targeted cell types. We believe our Gene Writing and delivery platforms will enable transformative genetic medicines to not only cure diseases that arise from errors in a single gene, but also modify inherited risk factors for common diseases and create engineered cells to treat cancer and potentially autoimmune and other diseases. Tessera Therapeutics was founded in 2018 by Flagship Pioneering, a life sciences innovation enterprise that conceives, creates, resources, and develops first-in-category bioplatform companies to transform human health and sustainability. For more information about Tessera, please visit ContactJonathan PappasLifeSci Communications, LLCjpappas@ while retrieving data Sign in to access your portfolio Error while retrieving data Error while retrieving data Error while retrieving data Error while retrieving data
Yahoo
17-05-2025
- Health
- Yahoo
Tessera Therapeutics Features New Preclinical Data Demonstrating Progress Across its In Vivo Gene Writing™ Programs and Delivery Platform at the American Society of Gene and Cell Therapy 28th Annual Meeting
Presented new preclinical data in non-human primates (NHP) for alpha-1 antitrypsin deficiency (AATD) and phenylketonuria (PKU), where RNA Gene Writer achieved an estimated 76% and 70% editing in hepatocytes1, respectively New AATD data reinforced the safety and precision of Tessera's proprietary LNP delivery system, demonstrating that it was well tolerated in NHP with high liver specificity and no off-target activity detected Preclinical data for sickle cell disease (SCD) across mouse and NHP models highlight Tessera's RNA Gene Writers' ability to drive durable and efficient gene editing greater than 20% in long-term hematopoietic stem cells (LT-HSCs), reaching a potentially curative threshold SOMERVILLE, Mass., May 17, 2025 (GLOBE NEWSWIRE) -- Tessera Therapeutics, the biotechnology company pioneering a new approach in genetic medicine known as Gene Writing™, is presenting updates across its in vivo genetic medicine programs for AATD, PKU, and SCD, as well as advances in in vivo T cell therapies. These data were shared across four oral presentations and three poster presentations at the American Society of Gene and Cell Therapy (ASGCT) Annual Meeting taking place in New Orleans, Louisiana, May 13 – 17, 2025. 'The ability to achieve durable, highly efficient gene editing in vivo – including in the liver, hematopoietic stem cells, and T cells – positions Tessera to address multiple disease areas,' said Michael Severino, M.D., CEO of Tessera Therapeutics. 'As we move closer to the clinic, these results underscore the potential of our Gene Writing and delivery platforms to advance a new class of genetic medicines that could one day transform the treatment of AATD, PKU, and SCD, and oncologic and autoimmune diseases.' AATD Data AATD is a monogenic disease of the liver caused by mutations in the SERPINA1 gene, resulting in an abnormal form of the alpha-1 antitrypsin (AAT) protein that causes both lung and liver manifestations. Preclinical data in NHPs following a single dose of 1.5 mg/kg of RNA Gene Writer formulated with a proprietary LNP delivery vehicle, continued to show robust levels of genome editing, achieving an estimated 76% in hepatocytes1 at the SERPINA1 locus. High fidelity was observed with a 195 to 1 ratio of intended to unintended edits at the target locus. As part of Tessera's evaluation of the genomic safety profile of its RNA Gene Writer, NHP data displayed high specificity of editing to the liver with only spleen showing quantifiable levels of editing above background (0.14%) among 30 additional tissues tested. Importantly, editing was not detected in germline tissues, including testes and ovaries. Editing was also highly specific to the intended SERPINA1 locus, with no off-target activity detected at other genetic loci. In addition, a study in NHPs where 80% editing of hepatocytes was achieved by an RNA Gene Writer targeting SERPINA1 demonstrated this editing was durable for at least six months, as supported by genomic DNA analysis of whole liver samples and cDNA analysis of edited mRNA transcripts. Data were also presented from an RNA Gene Writer that achieved therapeutically relevant levels of correction at very low doses in the PiZ mouse model, including 70% genomic correction in hepatocytes at 0.05 mg/kg, and 95% at 0.5 mg/kg that corresponded to 92% and 100% correction of serum AAT protein to wild-type. Durable mutation correction and phenotypic rescue was observed including a 75% reduction of AAT aggregates by liver histology that resulted in less than 5% of liver area being occupied by toxic aggregates in the 0.5 mg/kg treated group at 10 weeks post-treatment. Further data featured on Tessera's proprietary LNP delivery vehicle demonstrated that it was well tolerated in NHPs, with no clinically meaningful elevation in liver enzyme levels and no signs of coagulopathy at doses of 1 and 2 mg/kg. PKU Data PKU is a monogenic disease of the liver caused by mutations in the phenylalanine hydroxylase (PAH) gene, which leads to the inability to metabolize the dietary amino acid phenylalanine (Phe), resulting in toxic Phe accumulation and neurocognitive impairment. Preclinical data in NHPs was presented from a single dose of RNA Gene Writer formulated with a proprietary LNP delivery vehicle, where an estimated 70% editing of the PAH locus was achieved in hepatocytes1 at 2 mg/kg, with supporting cDNA analysis demonstrating 67% of PAH mRNA was edited. Data was also presented from an RNA Gene Writer that achieved an estimated 65% correction in hepatocytes at 0.2 mg/kg in the humanized R408W mouse model, normalizing plasma Phe levels in a mouse disease model. SCD Data SCD is the most common lethal monogenic disease globally, arising from a mutation in the hemoglobin beta-globin (HBB) gene that results in hemoglobin S, which can cause red blood cell sickling, acute and chronic pain, and widespread organ damage. Multiple proof-of-concept studies of Gene Writer formulated in a proprietary LNP delivery vehicle were presented, achieving greater than 20% HBB editing in LT-HSCs with repeat dose in two NHP species, including cynomolgus and rhesus, reaching potentially curative levels. Single cell analysis of HSCs collected from treated NHP showed ~35-50% of cells had at least one edited HBB gene. Edited cells demonstrated durability across multiple loci in NHP, out to 6 months with beta-2 microglobulin (B2M) surrogate editing and out to 4 months with HBB editing, with edited cells supporting long-term self-renewal and multi-lineage development. In a humanized mouse model engrafted with mobilized peripheral blood cells from individuals with SCD, RNA Gene Writer achieved approximately 35% in vivo correction of the HBB gene in LT-HSCs. Additional data in a humanized wild-type mouse model showed that RNA Gene Writer achieved greater than 50% HBB editing in LT-HSCs across multiple donors. These results across mouse and NHP models highlight Tessera's Gene Writing and delivery platforms' ability to drive efficient gene correction in clinically relevant cell populations, representing a significant advancement towards a potentially curative, durable and non-viral approach for treating SCD that will neither require stem cell mobilization/transplantation nor myeloablative pre-conditioning. Human mixed donor chimerism studies demonstrate that 20% chimerism can reverse the sickle phenotype in patients following allogeneic hematopoietic stem cell transplant.2 Advances Towards T-Cell Therapies Tessera is applying its Gene Writing and proprietary LNP delivery platforms to develop in vivo cell therapies for potential oncology and autoimmune disease applications. Proof-of-concept mouse studies demonstrated that a single intravenous infusion of RNA Gene Writer, delivered in a proprietary LNP, successfully generated functional CAR-T cells in vivo targeting CD19 and CD20. In a tumor-bearing xenograft model, this approach led to CD19 CAR-T cell expansion and complete tumor clearance. In a naïve humanized mouse model, an average of 30% CD20-targeted CAR writing was achieved in resting T cells, resulting in the elimination of circulating human B cells. ___________________1 Based on the assumption that 60% of liver cells are comprised of hepatocytes2 Blood. 2017;130(17):1946-1948 About Tessera Therapeutics Tessera Therapeutics is pioneering a new approach to genome engineering through the development of its Gene Writing™ and delivery platforms, with the aim to unlock broad new therapeutic frontiers. Our Gene Writing platform is designed to write therapeutic messages into the genome by efficiently changing single or multiple DNA base pairs, precisely correcting insertions and deletions, or adding exon-length sequences and whole genes. Our proprietary lipid nanoparticle delivery platform is designed to enable the in vivo delivery of RNA to targeted cell types. We believe our Gene Writing and delivery platforms will enable transformative genetic medicines to not only cure diseases that arise from errors in a single gene, but also modify inherited risk factors for common diseases and create engineered cells to treat cancer and potentially autoimmune and other diseases. Tessera Therapeutics was founded in 2018 by Flagship Pioneering, a life sciences innovation enterprise that conceives, creates, resources, and develops first-in-category bioplatform companies to transform human health and sustainability. For more information about Tessera, please visit ContactJonathan PappasLifeSci Communications, LLCjpappas@
Associated Press
22-04-2025
- Health
- Associated Press
Cycle Pharmaceuticals Launches Cycle Vita PKU™, an AI-Powered Smartphone App for On-The-Go Management of Phenylketonuria (PKU)
BOSTON--(BUSINESS WIRE)--Apr 22, 2025-- Cycle Pharmaceuticals (Cycle) has launched Cycle Vita PKU, an AI-powered app to help patients with PKU manage every aspect of their treatment plan. PKU is an inherited disorder caused by a deficiency of the phenylalanine hydroxylase (PAH) enzyme needed to process phenylalanine (Phe), which is found in all foods containing protein. 1 Nearly all cases of PKU are diagnosed through newborn screenings, 2 and require lifelong adherence to a strict PKU diet. 3 It can be challenging for patients with PKU, or their caregivers, to keep on top of everything, like medication, medical formula, lab results and diet. The app is designed to offer flexible and timely support with daily tracking, reminders and diet management tools. Users can plan their meals with a searchable food database of over 9,000 foods, as well as an AI-powered meal scanner that estimates Phe levels with a photo snap of the meal. For adolescents and young adults, who are gaining independence and navigating the transition to adulthood, Cycle Vita PKU may be a helpful aid for adhering to their medication and a Phe-restricted diet on-the-go. 'The launch of Cycle Vita PKU marks an exciting milestone as the first app from Cycle Vita™, Cycle's dedicated patient support platform. As part of Cycle's commitment to the PKU community, Cycle will continue to innovate and find new ways to provide support tailored to patients' needs. Cycle Vita PKU is just one example of that commitment.' says Jamie Ray, Director - Patient Support Program, Cycle. Cycle Vita PKU does not provide medical advice, diagnosis or treatment. Always seek the advice of your healthcare provider with any questions you may have. References Cycle Vita™ and Cycle Vita PKU™ are trademarks of Cycle Pharmaceuticals Ltd. ©2025 Cycle Pharmaceuticals Limited. All rights reserved. US-VITA-2500003. February 2025 About Cycle Pharmaceuticals Cycle Pharmaceuticals was founded in 2012 with the sole aim of delivering drug treatments and product support to the underserved rare disease patient community. Cycle focuses on rare metabolic, immunological, and neurological genetic conditions. Within neurological conditions, we focus on multiple sclerosis. Cycle is headquartered in Cambridge, UK and has offices in Boston, Massachusetts. For more information, please visit and follow us on X, LinkedIn and Facebook. View source version on CONTACT: [email protected] Cycle Pharmaceuticals Tel: +44 1223 354 118 KEYWORD: UNITED STATES NORTH AMERICA MASSACHUSETTS INDUSTRY KEYWORD: BIOTECHNOLOGY FDA OTHER HEALTH HEALTH GENERAL HEALTH PHARMACEUTICAL NEUROLOGY RESEARCH GENETICS SCIENCE CLINICAL TRIALS SOURCE: Cycle Pharmaceuticals Copyright Business Wire 2025. PUB: 04/22/2025 09:48 AM/DISC: 04/22/2025 09:48 AM
Morocco World
11-04-2025
- Health
- Morocco World
The Plight of PKU Children in Morocco and How little Sara fed a 100 PKU children
Washington DC – Almost six years ago, Fatiha and Abellatif Abderraziq stood in the parking lot of Washington children's hospital waiting for the doctor that just delivered their baby girl Sara. It was late at night and the doctor's shift was ending but she wanted to let them know as soon as possible because she had just received the test results. She finally walked towards them in the half light of the parking lot. They tried to read her face before she spoke but had no idea what was about to be revealed to them. When the doctor finally spoke, she had tears in her eyes. She let them know that their daughter would never have a normal life, would never be like other children, would not be like her sister Amira, and if they were not extremely careful with her diet, she would end up mentally and physically disabled. Thus began little Sara's story. Fatiha and Abedellatif stood there in shock trying to register the list of foods that the doctor was cautioning them against. Sara was a PKU child which is short for Phenylketonuria, a rare disease that afflicts roughly one in 10,000 babies depending on the background of the parents and so many other factors. PKU is a rare genetic disease that prevents the normal break down of protein amino acids like Phenylalanine (Phe). Phe is a precursor to Tyrosine which is essential for brain development and proper function. In Short, a build-up of Phe in PKU children can lead to brain fog and eventual disability. PKU children need expensive amino acids added to their diet without which they cannot have normal lives. Fatiha Abdellatif took little Sara home and looked up everything they could about PKU children. They were entering a new world of health science they never imagined they would. The first two years were very hard, they had a lot to learn and adapt to. Their lives changed forever. In time, with the excellent help from Children's hospital (Dr. Rieger), with the support of their insurance company, and the laws already established in the US for rare diseases, Sara would grow up to be a healthy six-year old girl with a healthy behavioral and moral development. When Sara was about two years old, Fatiha took a trip to Morocco, her home country and immediately started noticing cases of PKU children. She felt so much for them and at first she started using her savings to purchase small quantities of amino acids to send to remote family children that suffered from PKU. Through social media and word of mouth, within a year, she had almost 100 cases that were diagnosed with PKU in Morocco. Each case had a story, and a lot of them were heart wrenching. Almost all did not have any sustainable access to the needed amino-acids nor proper care for their children. Morocco did not even list PKU as a rare disease in the health ministry register. Fatiha and Abderraziq listened to their WhatsApp voice messages for countless hours day and night. Waling mothers told them their stories of the immense difficulties they had to figure out what was wrong with their babies. There were only two machines in Morocco capable of diagnosing PKU properly, and to get to those machines was a great ordeal. Mothers afraid of having a second or third PKU child relating gut wrenching stories about their decision to end pregnancies. Fathers who were not well to do spoke heroically of wanting to sell their own blood to get the amino acids needed for their children. In Morocco, lucky PKU children were diagnosed within a year of birth, but a lot of cases were not, and most of the families were playing catch up. As the children age it becomes more and more difficult to treat them. Then Covid hit. Fatiha and Abderraziq joined a non-profit organization in Virginia that was 501c3, founded a nonprofit in Morocco, SOSPKUMAROC, engaged with the Moroccan ambassador Lalla Joumala, and pestered Royal Air Maroc day and night for reasonable shipping rates to Morocco. They literally worked day and night and for three years they sent enough PKU food to sustain almost 100 families. They had donors from Morocco and the US, but they had to work hard to maintain them and to show progress, and a lot of cases did indeed show progress through video messages they got the parents to keep a steady feedback and update. Still, there were difficulties. Some parents did not even afford the monthly blood test that was needed to make the Phe content in the blood was within the proper limits. SOSPKUMAROC started paying for the blood tests, but the need was greater than what they could sustain. Fatiha and her husband also engaged with the Moroccan minister of health through SOSPKUMAROC two years ago, and even got him to issue a letter for the recognition of PKU as a rare disease. However, so far the letter has yet to take effect administratively in terms of diagnosis at the hospital centers of Morocco and for PKU amino acid compensation. Algeria, Egypt, Palestine as well as other MENA countries already provide PKU amino acids to their patients. A well established PKU health policy is still not established in Morocco. More recently, Fatiha also engaged with a Moroccan advocacy company called ASAP, Affair Scientifique Affair Public. Dr. Nawal Bentahila, who is leading ASAP, is extremely well qualified for the PKU case and is currently navigating the administrative waters in Rabat. There is progress but unfortunately slow, the non-profits on both sides of the ocean are showing signs of fatigue and the families are growing impatient. Last year, Fatiha with the help of SOS PKU Maroc and others spent her vacation to organize a conference in Casablanca for the PKU children. By all measure it was a success, the kids got to meet and play and the best part she recalls was the fact that the families could interact with a Psychologist (Dr, Kfifi) who gave them her time and what able to show them how to deal with their abnormal children. So many families were overwhelmed with emotion and were crying in the room. Given that the cost of sustaining and caring for a disabled PKU child or adult is much higher than the cost of taking care of a healthy PKU patient, the families' request is really not unreasonable: 1- PKU needs to be listed in the rare disease list, 2- newborn screening to be available in all of the six national hospital centers, 3- Phe blood test machines to be available in all of the six hospital centers, 4- Amino-acid availability or compensation for all the PKU patients. Sara's story is still unfolding, her parents continue to share with Morocco the best of what they learn in the US about PKU. This year Sara inspired her parents to organize another conference in Marrakesh for the PKU children in Morocco, November 17-19, save the date! She thinks it will be grand. To help Sara with her dream to help other like her, please reach out to her mom: [email protected]. Tags: chilrenHealthMoroccoPKU
