Understanding SCID Symptoms: What is ADA?

Severe Combined Immunodeficiency, commonly known as SCID, refers to a group of rare and inherited disorders that severely compromise the body's ability to fight off infections. Among its various forms lies Adenosine Deaminase-SCID (ADA-SCId), named after the enzyme deficiency responsible for this particular condition.

Symptoms of ADA-SCID typically manifest within the first few months or even years of life and can vary depending on several factors, including age at diagnosis and severity of immunodeficiency. Common signs include recurrent infections caused by viruses, bacteria, fungi, and protozoa; failure to thrive despite adequate feeding; chronic diarrhea; delayed growth and development beyond 90th percentile for corrected age; susceptibility to common childhood illnesses such as ear infections (otitis media), pneumonia, or meningitis.

The current standard treatment option involves regular injections of the ADA enzyme. However, these treatments are expensive and often out-of-reach for many patients worldwide due to limited healthcare resources in certain countries. This has led researchers to explore alternative therapies that could potentially offer a more sustainable solution.

Recent breakthroughs in gene therapy have provided hope for individuals living with various genetic disorders including ADA-SCID. If approved, this revolutionary treatment approach would involve the introduction of healthy copies of the responsible genes into patient stem cells using viral vectors such as lentiviral or adeno-associated viruses (AAV). The corrected stem cells then proliferate throughout the body replacing defective ones thereby restoring their normal functioning.

A promising study published in the New England Journal of Medicine reported encouraging two-to-three-year outcomes following treatment with an experimental gene therapy for ADA-SCID. Researchers at University College London and Great Ormond Street Hospital conducted clinical trials involving 50 children between ages six months to seven years who were suffering from this devastating condition. The results showed significant improvements in immune function, reduced frequency of infections, improved growth rates, and overall quality-of-life measures compared to those receiving standard treatments alone.

While much work remains before gene therapy becomes widely available as a treatment option for ADA-SCID, these promising findings offer glimmering hope on the horizon for families affected by this cruel disease.

SCID symptoms what is ADA