Majid Jafar, Co-Founder of the Loulou Foundation, discusses the strategic evolution of the patient research organisation that he co-founded with his wife following their daughter Alia’s diagnosis with CDKL5 Deficiency Disorder (CDD). By moving beyond traditional advocacy into "philanthropharma", Jafar has spearheaded the development of a global translational toolkit, contributing to the first FDA-approved treatment for the condition and gene therapies in the pipeline. He shares insights on the power of industry partnerships, the "people of determination" ecosystem in the UAE, and the impending shift from symptomatic treatment to genetic cures.
Could you introduce the Loulou Foundation and the personal journey that led to its establishment?
My background was originally in physical sciences and engineering within the energy sector, and I had little experience in the healthcare space until our eldest daughter, Alia – nicknamed Loulou – was born 11 years ago. Despite a healthy pregnancy, she began having seizures 19 days after birth. It took several months to receive a diagnosis: a de novo mutation in the CDKL5 gene. We were told she would likely never walk or talk and would suffer daily seizures, a devastating prognosis.
At the time, we scoured resources like PubMed and reached out to patient groups in the US and Europe. We quickly realised that in terms of genetics we were living in an “age of knowledge” without yet having the ability to apply that knowledge to treatments. This experience taught us the vital importance of international patient communities; they had already begun establishing the basic research building blocks required, such as animal models and iPS cell lines.
We decided that rather than creating another advocacy group, we would establish a research-focused, non-profit organisation to advance both basic and translational science. The Loulou Foundation was established in 2015 with a clear mission to de-risk the disease for industry and accelerate the research agenda, enabling transformative therapeutics for CDD patients and their families.
The scientific landscape for CDKL5 Deficiency Disorder (CDD) is complex. How did you and your team approach the underlying biology?
When we started, publications were scarce and predominantly focused on clinical observations. CDD was often misclassified as an early-onset seizure variant of Rett syndrome. Interestingly, my wife’s aunt, Professor Huda Zoghbi at Baylor College of Medicine, identified the MECP2 gene as the causative gene of Rett syndrome, which helped provide a framework for our inquiry. We needed to understand what the CDKL5 gene does – it encodes for a kinase in the brain, an enzyme essential for learning, memory, and general cognitive function. In girls, because the gene is X-linked, this results in a 50 per cent deficiency.
We launched a research programme that awards pilot grants every year on 1 May, Alia’s birthday, to identify key biological questions. Simultaneously, we built a comprehensive “toolkit” for researchers, including rat models and iPS cell lines with isogenic controls. Crucially, we stipulated that everything we fund must be available to both for-profit and non-profit entities. In 2015, the first scientific meeting we hosted in London had only 12 people around a table; our most recent annual CDKL5 Forum in Boston hosted over 250 scientists and representatives from more than 35 companies, highlighting the scale of collaboration we have helped bring together. We have successfully broken down barriers between academia, industry, and regulators to create a trial-ready ecosystem.
Partnerships appear to be the cornerstone of your strategy. Could you highlight some of the key figures and collaborations that have defined your progress?
I often repeat that if it takes a village to raise a child, it takes the whole world to cure one with a rare disease. Partnerships are fundamental to our entire operating model. We maintain the ethos that the biopharma industry is our customer; our role is to provide them with exactly what they need to de-risk our disease. This is a necessity when competing for attention among 8,000 genetic diseases, 95 per cent of which still lack a treatment. Fortunately, due to our efforts, we are now in the five per cent that possess an FDA-approved treatment, with others on the horizon.
At our inaugural meeting in 2015, we set an ambitious target: treatments in five years and cures in 10. Sceptics suggested we were too “ultra-rare” to attract company programmes, but we proved that we are actually “medium-rare”, with an incidence rate of one in 42,000 live births. We helped define this data, secured an ICD-10 code, and engaged in critical sessions with the FDA. The FDA has been a vital partner in our Patient-Focused Drug Development (PFDD) meetings and the subsequent “Voice of the Patient” report. These initiatives helped regulators and companies recognise a trial-ready population supported by well-identified sites, a clear research agenda, and a robust translational toolkit.
Beyond funding research tools, we have invested in a GDPR-compliant patient registry and launched a comprehensive endpoint study. While symptomatic treatments address issues like epilepsy, genetic cures for complex disabilities – involving motor, cognitive, and communication impairments – require sophisticated measurement. With pro bono guidance from Dr Billy Dunn, the former head of the neurology division at the FDA, we developed a clinical endpoint study with seven industry partners, including major pharmaceutical names. This non-interventional trial, the CANDID study, is now in its third year and involves 105 patients worldwide – including a site in Dubai where my own daughter is enrolled – to establish efficacy using validated scales and outcome measures.
Our partnership strategy also involves identifying companies with assets ready for the clinic and supporting them with regulators, clinicians, and hospitals. This approach was successful with a company then called Marinus (now part of Immedica Pharma); they ran a Phase II trial for the drug ganaxolone, in which my daughter participated. It progressed to Phase III and, in 2021, received the first-ever FDA approval specifically for CDD, demonstrating that this philanthro-pharma collaboration model can deliver results. Furthermore, an anti-seizure therapy developed with UCB has read out successfully in Phase III and is likely to be the next approval. Having delivered on our five-year target for treatments, we are now pursuing cures through Elaaj Bio, a company wholly owned by the Foundation. Named by our CSO, Dan Lavery, Elaaj (meaning “cure” in Arabic) is advancing a gene therapy programme. We intend to file an IND later this year and hope to enter the clinic as early as next year.
How is the foundation funded, and how does it sit alongside your other philanthropic efforts in the UAE?
The Loulou Foundation is funded by my wife and me and by my family. We have made a deliberate point of supporting existing patient advocacy groups rather than competing with them for limited donor funds. We encourage families who wish to donate to support those advocacy groups directly.
Separately, my wife and I established High Hopes, a paediatric therapy centre for children with complex special needs here in Dubai. It supports more than 300 children with a range of services, including physiotherapy, occupational therapy, speech and language therapy, feeding, and hydrotherapy. The community support has been immense, exemplified by the rare disease awareness walks we have held here in Dubai, which drew over 2,000 participants and received incredible support from the government, including leadership from the UAE Minister of Tolerance, His Excellency Sheikh Nahyan bin Mubarak Al Nahyan.
How would you describe the rare disease ecosystem and support infrastructure in the UAE?
The UAE has been an incredibly supportive environment for raising a child with special needs. The government’s decision to replace the term “disabled” with “people of determination” – ashab al himam in Arabic – reflects a deep societal and regulatory acceptance, with the tone set by the leadership.
From an operational standpoint, the UAE also serves as an ideal global hub. The Loulou Foundation functions through a virtual model. My Chief Scientific Officer and head of gene therapy are based on the US East Coast, and we have team members across the West Coast, Spain, and France. This allows me to manage my primary responsibilities in the energy sector during the day and transition seamlessly into the foundation’s global calls in the evening. The local infrastructure has advanced remarkably over the last decade. The UAE National Genetics Initiative is a standout example – it emulates successful models like Genomics England but moves with even greater speed, supported by personal leadership from His Highness Sheikh Khaled bin Mohamed bin Zayed Al Nahyan, and a clear goal to sequence the genomes of citizens and residents alike.
We are also seeing the rapid establishment of specialised clinical centres, such as the Al Jalila Children’s Speciality Hospital and its dedicated genomics service. There is an immense ambition to build world-class rare disease centres across the country and the wider region. This momentum is further evidenced by the scale of regional conferences, which now attract significant biopharma sponsorship and global participation. While our focus remains firmly on the patients rather than on academic publications, the significant increase in scientific output originating from this region is another clear indicator of a maturing and highly capable ecosystem.
Looking ahead five years, what are your strategic priorities for the foundation and the broader rare disease community?
Our primary goal is to see a genetic cure in the clinic. We speak of “cures” in the plural because we recognise there will be successive generations of improvement. Our research has shown that restoring CDKL5 even in mature mice can ameliorate symptoms, which gives us great hope that this is a disease of neuro-maintenance that can be treated later in life.
The biopharma market is currently facing funding challenges, particularly in gene therapy, which makes the role of patient-led “philanthro-pharma” more critical than ever. We are now seeing science fiction become reality; ten years ago, the idea of “putting a gene back” seemed impossible, but today we have gene editing programmes in partnership with David Liu, a leading inventor at the Broad Institute and Harvard University.
Do you have a final message or call to action for the global healthcare and life sciences industry?
There are nearly 400 million people living with rare diseases globally, a population larger than those affected by cancer, tuberculosis, and malaria combined. We are the generation of humanity tasked with turning genomic knowledge into cures. I have full confidence that these diseases will be treatable, but reaching that goal requires absolute dedication, partnership, and hard work.
