New Nusinersen Drug Delivery Method Identified for Spinal Muscular Atrophy Patients

STRASBURG, PA- A new report has identified an alternative method to deliver nusinersen to patients with spinal muscular atrophy (SMA) using a subcutaneous intrathecal catheter system (SIC) configured by connecting an intrathecal catheter to an implantable infusion port. SMA is a devastating genetic disease that leads to progressive degeneration of motor neurons that control movement, swallowing, and breathing. It is the leading genetic cause of infant death worldwide. Nusinersen is the first FDA approved therapy for SMA but must be administered into the cerebrospinal fluid by repeat lumbar puncture every 4 months for life. Unfortunately, the majority of surviving SMA patients have skeletal deformities or spinal hardware that make it difficult to safely and reliably access the cerebrospinal fluid. The study, by clinicians and researchers at the Clinic for Special Children in Strasburg,PA and the Nemours/A.I. duPont Hospital for Children in Wilmington DE, appears in the Journal of Pediatric Orthopaedics.


Read the full press release here

Read the paper here

Register Now! Clinic for Special Children 5k

Please join us for our FIRST 5K Run/Jog/Walk to benefit Clinic for Special Children! $100 CASH PRIZE for overall top male & female runners!

Enjoy a 5K, free refreshments, a silent auction, and crafts for kids among the many family-friendly activities planned for the day! Proceeds support the mission of Clinic for Special Children, a medical home for children living with rare genetic disease.

If you can’t make the race and you’d like to support us, please SHARE our 5K event with your friends and family or Click Here for event sponsorship opportunities

Click on Flyer below for Online Registration           Click on Form below for Paper Registration

(Online registration closes Weds. Sept. 19th)                        (Paper registration available including day-of race)


Runners, joggers, and walkers are invited to join us for a 3.1 mile easy course starting and ending at the Clinic for Special Children in Strasburg Township along scenic country roads, winding through Lancaster County farmland. Participants will have full use of the closed road as they venture past vineyards, see an Amish schoolhouse, and pass by acres of picturesque Amish farms.

WHERE: The race begins and ends at the Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579.

TIMES: 5K Run/Jog/Walk starts at 8:00 a.m. with awards ceremony following the race.
Registration and packet pick-up will be open on race day from 6 a.m. – 7:30 a.m.

$25 if registered by Sept 1, includes goody bag and t-shirt (Entry and payment must be received no later than
September 1)
$30 after September 1 (including race day), includes goody bag and t-shirt while supplies last
FREE for children age 3 and under
Optional online registration available here (nominal service fee applies, closes at midnight, Wednesday, September 19)

PRE-PACKET PICK-UP: available Friday, September 21 between 4-7 p.m. at Clinic for Special Children

AWARDS: Medals will be awarded to: 1st overall male and female and top 3 male and female in the following
categories: 14 & under, 15-19, 20-29, 30-39, 40-49, 50-59, 60+

QUESTIONS: Contact Keturah Beiler at or 717-687-9407

CLICK HERE to follow our Clinic for Special Children 5K Facebook event for information updates and newest event details.



Thank You to our 5k Sponsors

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Enjoy CSC’s Summer 2018 Newsletter!


In this edition of the CSC newsletter, read about the Martin family’s inspiring journey with Kleefstra Syndrome. Also in this issue is the story of Margaretha whom the Clinic met while on a medical mission to Mexico and Drs. Matt Demczko and Mike Fox returning to CSC. Additional spotlights include our upcoming events, Clinic staff announcements, carrier testing FAQ, our collaborators from Children’s Hospital of Pittsburgh, a embroidery company from Oklahoma supporting the Clinic stitch by stitch, and our 2018 Fall Family Fun Day!


Read the 2018 CSC Newsletter HERE

Amish Nemaline Myopathy Natural History Study Finds Promise for Gene Therapy Treatment

STRASBURG, PA- A new comprehensive natural history study about Amish nemaline myopathy (ANM) in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder. Amish nemaline myopathy (ANM) is an infantile-onset muscle disease linked to a mutation of the TNNT1 gene. The study summarizes genealogical records, clinical data, and molecular reports of one hundred and six ANM patients born between 1923 and 2017 and was led by researchers from the Clinic for Special Children in Strasburg, PA. It appeared this month in the journal Human Molecular Genetics.


Read the full press release here