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The Cure AP-4 non-profit organization was founded in 2016 by families of two of the known SPG47 patients. It was originally founded as Cure SPG47, but the mission has since expanded to include all four AP-4 related disorders due to shared natural history, goals and patient/family needs. We refuse to accept the bleak prognosis which our children face. We have decided to fight. The purpose of this organization is to study and seek a cure for all AP-4 HSP disorders. We aim to improve the quality of life for children impacted by AP-4 HSP by accelerating the research for cures and treatments and providing support for patient therapies critical to their well-being and rehabilitation.
AP-4 Hereditary Spastic Paraplegia, also known as AP-4 Deficiency Syndrome, includes four sub-types of Hereditary Spastic Paraplegia: SPG47, SPG50, SPG51 and SPG52. Each of these HSP sub-types is associated with a defective autosomal recessive gene which causes a failure in the AP-4 Adaptor Complex. The phenotype and prognosis for each of the four sub-types is extremely similar. Patients afflicted with any of the AP-4 HSP genetic disorders generally present with symptoms including global developmental delay, microcephaly, seizures, malformation of the brain, and hypotonia (low-muscle tone). The few patients that learn to walk independently tend to lose that ability a few months or a few years later as they develop hypertonia (high-muscle tone) and muscle spasticity. Of the ~252 confirmed cases of AP-4 HSP in the world at this time, most patients have progressed to loss of mobility in some or all extremities and are cognitively impaired. Because of the extreme rarity of AP-4 HSP, limited research has been conducted to date, and there are no known treatments or cures at this time.
SPG47, SPG50, SPG51 and SPG52 are caused by mutations in the AP4B1, AP4M1, AP4E1 and AP4S1 genes respectively.
Company Details
- Employees
- 2
- Founded
- -
- Address
- Newburyport, Ma
- Industry
- Non-Profit Organizations
- Website
- http://cureap4.org/
- Keywords
- Reddick.
- HQ
- Newburyport, MA
- Competitors
- F.M. Kirby Neurobiology Center at Boston Children's Hospital, Spastic Paraplegia Foundation, Inc, JPND - EU Joint-Programme Neurodegenerative Disease Research, IBTV, BrainLat UAI, Neurodegenerative Disease Research Inc, Institute for Neurodegenerative Disorders, BioPharma Consulting JAD Group, Duchenne Parent Project, BlackfinBio.
Cure Ap-4, Inc. Questions
Cure AP-4, Inc.'s website is http://cureap4.org/
Cure AP-4, Inc.'s LinkedIn profile is https://www.linkedin.com/company/cureap4
Cure AP-4, Inc. has
2 employees.
View email and phone details for 2
employees at Cure AP-4, Inc..
Cure AP-4, Inc.'s industry is
Non-profit Organizations
Cure AP-4, Inc.'s top competitors are
F.m. Kirby Neurobiology Center At Boston Children's Hospital,
Spastic Paraplegia Foundation, Inc,
Jpnd - Eu Joint-Programme Neurodegenerative Disease Research,
Ibtv,
Brainlat Uai,
Neurodegenerative Disease Research Inc,
Institute For Neurodegenerative Disorders,
Biopharma Consulting Jad Group,
Duchenne Parent Project,
Blackfinbio.
Cure AP-4, Inc.'s categories are Non-profit Organizations
Cure AP-4, Inc.'s founding year is 2016
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Hatboro, Pennsylvania, United States, United States3gmail.com, therivertoncountryclub.com, rivertoncc.com2 +121599XXXXX
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